B. Dauriat

发表

One NF1 Mutation may Conceal Another

E. Pasmant, M. Vidaud, I. Laurendeau, 2019, Genes.

GM2 gangliosidosis AB variant: first case of late onset and review of the literature

F. Lamari, P. Calvas, L. Richard, 2022, Neurological Sciences.

GM2 gangliosidosis AB variant: first case of late onset and review of the literature

F. Lamari, P. Calvas, L. Richard, 2022, Neurological Sciences.

Severe Phenotype in Patients with Large Deletions of NF1

S. Julia, E. Pasmant, A. Sabbagh, 2021, Cancers.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Jean-François Taly, J. Thevenon, B. Cogné, 2021, Journal of Medical Genetics.

Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11.

C. Yardin, B. Dauriat, S. Bourthoumieu, 2019, Morphologie : bulletin de l'Association des anatomistes.

Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience

C. Yardin, B. Dauriat, S. Bourthoumieu, 2023, Frontiers in Oncology.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Genome Medicine.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.

F. Lamari, B. Dauriat, D. Bonnefont-Rousselot, 2022, Molecular genetics and metabolism.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.